Chronic Dacryocystitis With Elevated IgG4-Plasma Cells in a Patient With Rubinstein-Taybi Syndrome: An IgG4-Related Disease?

Rubinstein-Taybi syndrome (RTS) is a rare congenital neurodevelopmental disorder associated with several ocular and lacrimal anomalies. A 40-year-old female patient with RTS presented with persistent right-sided epiphora following an earlier unsuccessful endoscopic dacryocystorhinostomy performed elsewhere. The patient underwent revision external dacryocystorhinostomy with fistulectomy and intubation. Intraoperatively, a focal polypoidal lacrimal sac lesion was noted, and histological analysis revealed significant immunoglobulin G4 (IgG4)-plasma cell infiltration. However, the diagnostic criteria for IgG4-related ophthalmic disease were not fulfilled. The revision external surgery was anatomically and functionally successful. To the best of the authors' knowledge, this is the first report of IgG4-plasma cell infiltration in the lacrimal apparatus of a patient with RTS.